← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-48892834-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=48892834&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 48892834,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001014446.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.321G>C",
"hgvs_p": "p.Gln107His",
"transcript": "NM_001014446.3",
"protein_id": "NP_001014446.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 154,
"cds_start": 321,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000508632.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014446.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.321G>C",
"hgvs_p": "p.Gln107His",
"transcript": "ENST00000508632.6",
"protein_id": "ENSP00000423014.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 154,
"cds_start": 321,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001014446.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508632.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.265+1172G>C",
"hgvs_p": null,
"transcript": "ENST00000273860.8",
"protein_id": "ENSP00000273860.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273860.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "n.1640G>C",
"hgvs_p": null,
"transcript": "ENST00000514576.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000514576.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.417G>C",
"hgvs_p": "p.Gln139His",
"transcript": "ENST00000899079.1",
"protein_id": "ENSP00000569138.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 186,
"cds_start": 417,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899079.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.339G>C",
"hgvs_p": "p.Gln113His",
"transcript": "ENST00000899078.1",
"protein_id": "ENSP00000569137.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 160,
"cds_start": 339,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899078.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.321G>C",
"hgvs_p": "p.Gln107His",
"transcript": "ENST00000899077.1",
"protein_id": "ENSP00000569136.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 154,
"cds_start": 321,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899077.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.321G>C",
"hgvs_p": "p.Gln107His",
"transcript": "ENST00000899080.1",
"protein_id": "ENSP00000569139.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 154,
"cds_start": 321,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899080.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.321G>C",
"hgvs_p": "p.Gln107His",
"transcript": "ENST00000899082.1",
"protein_id": "ENSP00000569141.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 154,
"cds_start": 321,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899082.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.321G>C",
"hgvs_p": "p.Gln107His",
"transcript": "ENST00000928707.1",
"protein_id": "ENSP00000598766.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 154,
"cds_start": 321,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928707.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.321G>C",
"hgvs_p": "p.Gln107His",
"transcript": "ENST00000928708.1",
"protein_id": "ENSP00000598767.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 154,
"cds_start": 321,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928708.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.321G>C",
"hgvs_p": "p.Gln107His",
"transcript": "ENST00000928710.1",
"protein_id": "ENSP00000598769.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 154,
"cds_start": 321,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928710.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.321G>C",
"hgvs_p": "p.Gln107His",
"transcript": "ENST00000928711.1",
"protein_id": "ENSP00000598770.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 154,
"cds_start": 321,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928711.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.273G>C",
"hgvs_p": "p.Gln91His",
"transcript": "ENST00000899075.1",
"protein_id": "ENSP00000569134.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 138,
"cds_start": 273,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899075.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.267G>C",
"hgvs_p": "p.Gln89His",
"transcript": "ENST00000899081.1",
"protein_id": "ENSP00000569140.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 136,
"cds_start": 267,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899081.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gln73His",
"transcript": "ENST00000928706.1",
"protein_id": "ENSP00000598765.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 120,
"cds_start": 219,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928706.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.204G>C",
"hgvs_p": "p.Gln68His",
"transcript": "ENST00000899076.1",
"protein_id": "ENSP00000569135.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 115,
"cds_start": 204,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899076.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.135G>C",
"hgvs_p": "p.Gln45His",
"transcript": "NM_001286774.2",
"protein_id": "NP_001273703.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 92,
"cds_start": 135,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286774.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.265+1172G>C",
"hgvs_p": null,
"transcript": "NM_001286773.2",
"protein_id": "NP_001273702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286773.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.265+1172G>C",
"hgvs_p": null,
"transcript": "NM_152398.4",
"protein_id": "NP_689611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152398.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.265+1172G>C",
"hgvs_p": null,
"transcript": "ENST00000620187.4",
"protein_id": "ENSP00000483997.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620187.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.265+1172G>C",
"hgvs_p": null,
"transcript": "ENST00000381464.6",
"protein_id": "ENSP00000370873.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381464.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "c.146+24G>C",
"hgvs_p": null,
"transcript": "ENST00000928709.1",
"protein_id": "ENSP00000598768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": null,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "n.566G>C",
"hgvs_p": null,
"transcript": "ENST00000508069.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000508069.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "n.*113G>C",
"hgvs_p": null,
"transcript": "ENST00000510159.1",
"protein_id": "ENSP00000425452.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510159.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "n.154G>C",
"hgvs_p": null,
"transcript": "ENST00000512087.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000512087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "n.*113G>C",
"hgvs_p": null,
"transcript": "ENST00000510159.1",
"protein_id": "ENSP00000425452.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510159.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "n.293+1172G>C",
"hgvs_p": null,
"transcript": "ENST00000506226.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000506226.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"hgvs_c": "n.347+1172G>C",
"hgvs_p": null,
"transcript": "NR_104589.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104589.1"
}
],
"gene_symbol": "OCIAD2",
"gene_hgnc_id": 28685,
"dbsnp": "rs747262881",
"frequency_reference_population": 0.00015187394,
"hom_count_reference_population": 0,
"allele_count_reference_population": 245,
"gnomad_exomes_af": 0.000157427,
"gnomad_genomes_af": 0.0000985636,
"gnomad_exomes_ac": 230,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6988285779953003,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.238,
"revel_prediction": "Benign",
"alphamissense_score": 0.3837,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.096,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001014446.3",
"gene_symbol": "OCIAD2",
"hgnc_id": 28685,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.321G>C",
"hgvs_p": "p.Gln107His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}